Eef1a2^em#Abb
Endonuclease-mediated Allele Detail

Summary

• Symbol: Eef1a2^em#Abb
• Name: eukaryotic translation elongation factor 1 alpha 2; endonuclease-mediated mutation, Catherine M Abbott
• MGI ID: MGI:7277680
• Synonyms: D252H
• Gene: Eef1a2 Location: Chr2:180789446-180798807 bp, - strand Genetic Position: Chr2, 103.6 cM
• Alliance: Eef1a2^em#Abb page

Mutation origin

• Strain of Origin: C57BL/6JCrl

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a G to C change at position 754 resulting in a aspartate to histidine substitution at amino acid 252 (D252H). Two lines were established. This record represents pooled data from the two lines. No difference from wild-type mice in RNA levels is seen, however protein levels are approximately 60% that of wild-type mice in the brain and are approximately 1.6 times higher than in wild-type mice in muscle. This mutation appears to result in a gain of function. (J:296080)

Disease models

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Eef1a2 Mutation: 12 strains or lines available

References

• Original: J:296080 Davies FCJ, et al., Recapitulation of the EEF1A2 D252H neurodevelopmental disorder-causing missense mutation in mice reveals a toxic gain of function. Hum Mol Genet. 2020 Jun 27;29(10):1592-1606
• All: 1 reference(s)